Congenital Muscular Dystrophies

Like the classical congenital myopathies, the muscular dystrophies are genetically determined diseases of skeletal muscle. Unlike the classical myopathies, there are not unique pathological findings, like nemaline rods or central cores. So historically, these disorders have been placed in a separate category. However, they are a subset of congenital myopathies.

Congenital muscular dystrophy, paraffin-embedded H&E stain x200This section came from a 4-year-old boy who died following a seizure, and was found to have focal cobblestone lissencephaly in addition to his muscular dystrophy.